NTHL1-deficiency tumor predisposition syndrome
Findings
No curated finding names NTHL1-deficiency tumor predisposition syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
Definition from the Mondo Disease Ontology (MONDO:0100502), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NTHL1HGNC:8028
- Definitive · ClinGen · Autosomal recessive · 2022
Where it sits
- A kind of